US6689564B2ExpiredUtilityA1

Mutations in IKKγ

41
Assignee: UNIV CALIFORNIAPriority: Jun 16, 2000Filed: Jun 15, 2001Granted: Feb 10, 2004
Est. expiryJun 16, 2020(expired)· nominal 20-yr term from priority
Inventors:Konstantinos MakrisMichael Karin
A01K 67/0276A01K 2217/075A01K 2227/105A01K 2267/0306A01K 2267/0368C12N 9/12C12N 15/8509
41
PatentIndex Score
0
Cited by
87
References
35
Claims

Abstract

The present invention relates to compositions and methods involving IKKγ mutants. In particular, the present invention provides methods and compositions, including transgenic animals, suitable for use in determining means to treat, control, and/or prevent incontinentia pigmenti (IP). The present invention also provides methods to detect the presence of mutations in the IKKγ gene and protein.

Claims

exact text as granted — not AI-modified
What is claimed is:  
     
       1. A method for detecting a mutant Ikkγ/NEMO gene by detecting protein expression in an individual selected from the group consisting of human and mouse, said method comprising detecting IKKα and IKKβ expression, in the absence of IKKγ/NEMO expression, in biopsy material obtained from said individual. 
     
     
       2. The method of  claim 1 , wherein said detection is by immunoblot. 
     
     
       3. The method of  claim 1 , further comprising identifying said individual as having incontinentia pigmenti or as an incontinentia pigmenti carrier. 
     
     
       4. The method of  claim 1 , wherein said biopsy material comprises cells selected from the group consisting of skin cells, embryonic stem cells, embryonic fibroblast cells, hepatocyte cells, thymocyte cells splenocyte cells, epidermal cells, and fibroblast cells. 
     
     
       5. The method of  claim 1 , wherein said mutant Ikkγ/NEMO gene comprises a mutation in at least one exon selected from the group consisting of exon 1, exon 2, and exon 10. 
     
     
       6. The method of  claim 5 , wherein said exon is exon 1. 
     
     
       7. The method of  claim 5 , wherein said exon is exon 2. 
     
     
       8. The method of  claim 5 , wherein said exon is exon 10. 
     
     
       9. A method for detecting a mutant Ikkγ/NEMO gene in an animal selected from the group consisting of human and mouse, said method comprising: 
       (a) detecting a reduced level of IKKγ/NEMO polypeptide in a tissue from said animal compared to the level of IKKγ/NEMO polypeptide in a tissue from a normal animal, and  
       (b) detecting no change in the level of IKKα polypeptide and IKKβ polypeptide in said tissue from said animal compared to the level of IKKα polypeptide and IKKβ polypeptide in said tissue from said normal animal.  
     
     
       10. The method of  claim 9 , further comprising identifying said animal as having incontinentia pigmenti or as an incontinentia pigmenti carrier. 
     
     
       11. The method of  claim 9 , wherein said detecting is by immunoblot. 
     
     
       12. The method of  claim 9 , wherein said tissue from said animal comprises cells selected from the group consisting of skin cells, embryonic stem cells, embryonic fibroblast cells, hepatocyte cells, thymocyte cells splenocyte cells, epidermal cells, and fibroblast cells. 
     
     
       13. The method of  claim 9 , wherein said mutant Ikkγ/NEMO gene comprises a mutation in at least one exon selected from the group consisting of exon 1, exon 2, and exon 10. 
     
     
       14. The method of  claim 13 , wherein said exon is exon 1. 
     
     
       15. The method of  claim 13 , wherein said exon is exon 2. 
     
     
       16. The method of  claim 13 , wherein said exon is exon 10. 
     
     
       17. A method for detecting a mutant Ikkγ/NEMO gene in an animal selected from the group consisting of human and mouse, said method comprising: 
       (a) detecting a reduced level of IKKγ/NEMO mRNA in a tissue from said animal compared to the level of IKKγ/NEMO mRNA in a tissue from a normal animal, and  
       (b) detecting no change in the level of IKKα mRNA and IKKβ mRNA in said tissue from said animal compared to the level of IKKα mRNA and IKKβ mRNA in said tissue from said normal animal.  
     
     
       18. The method of  claim 17 , further comprising identifying said animal as having incontinentia pigmenti or as an incontinentia pigmenti carrier. 
     
     
       19. The method of  claim 17 , wherein said detecting is by Northern blot. 
     
     
       20. The method of  claim 17 , wherein said tissue from said animal comprises cells selected from the group consisting of skin cells, embryonic stem cells, embryonic fibroblast cells, hepatocyte cells, thymocyte cells splenocyte cells, epidermal cells, and fibroblast cells. 
     
     
       21. The method of  claim 17 , wherein said mutant Ikkγ/NEMO gene comprises a mutation in at least one exon selected from the group consisting of exon 1, exon 2, and exon 10. 
     
     
       22. The method of  claim 21 , wherein said exon is exon 1. 
     
     
       23. The method of  claim 21 , wherein said exon is exon 2. 
     
     
       24. The method of  claim 21 , wherein said exon is exon 10. 
     
     
       25. A method for detecting a mutant Ikkγ/NEMO gene in an animal selected from the group consisting of human and mouse, said method comprising detecting a difference in mobility of at least one Ikkγ/NEMO exon in a tissue from said animal compared to mobility of said Ikkγ/NEMO exon in a tissue from a normal animal. 
     
     
       26. The method of  claim 25 , further comprising identifying said animal as having incontinentia pigmenti or as an incontinentia pigmenti carrier. 
     
     
       27. The method of  claim 25 , wherein said detecting is by reverse transcriptase polymerase chain reaction (RT-PCR). 
     
     
       28. The method of  claim 25 , wherein said detecting is by single-stranded conformation polymorphism (SSCP) analysis. 
     
     
       29. The method of  claim 25 , wherein said detecting is by conformation-sensitive gel electrophoresis (CSGE). 
     
     
       30. The method of  claim 25 , wherein said tissue from said animal comprises cells selected from the group consisting of skin cells, embryonic stem cells, embryonic fibroblast cells, hepatocyte cells, thymocyte cells splenocyte cells, epidermal cells, and fibroblast cells. 
     
     
       31. The method of  claim 25 , wherein said mutant Ikkγ/NEMO gene comprises a mutation in at least one exon selected from the group consisting of exon 1, exon 2, and exon 10. 
     
     
       32. The method of  claim 31 , wherein said exon is exon 1. 
     
     
       33. The method of  claim 31 , wherein said exon is exon 2. 
     
     
       34. The method of  claim 31 , wherein said exon is exon 10. 
     
     
       35. The method of  claim 25 , wherein said detecting is by Southern blot.

Join the waitlist — get patent alerts

Track US6689564B2 — get alerts on status changes and closely related new filings.

We store only your email — no account needed. See our privacy policy.